ClinVar Miner

List of variants studied for Greig cephalopolysyndactyly syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 205
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HGVS dbSNP gnomAD frequency
NM_000168.6(GLI3):c.1356+11G>C rs846273 0.97240
NM_000168.6(GLI3):c.547A>G (p.Thr183Ala) rs846266 0.64495
NM_000168.6(GLI3):c.*428C>T rs2051935 0.35079
NM_000168.6(GLI3):c.2993C>T (p.Pro998Leu) rs929387 0.31467
NM_000168.6(GLI3):c.*2757C>T rs3823720 0.25562
NM_000168.6(GLI3):c.*741A>G rs114615136 0.08538
NM_000168.6(GLI3):c.*265A>C rs201493390 0.08079
NM_000168.6(GLI3):c.900C>T (p.Ser300=) rs35961850 0.07677
NM_000168.6(GLI3):c.537C>T (p.His179=) rs3898405 0.07173
NM_000168.6(GLI3):c.4071C>T (p.Tyr1357=) rs34089404 0.07043
NM_000168.6(GLI3):c.*248T>A rs61091998 0.04248
NM_000168.6(GLI3):c.*1296T>C rs77126593 0.04211
NM_000168.6(GLI3):c.*726A>G rs118157739 0.03505
NM_000168.6(GLI3):c.*30G>T rs77886553 0.03497
NM_000168.6(GLI3):c.*655A>G rs77197280 0.03496
NM_000168.6(GLI3):c.*136T>A rs78794712 0.03493
NM_000168.6(GLI3):c.4609C>T (p.Arg1537Cys) rs35364414 0.03460
NM_000168.6(GLI3):c.*1087A>T rs76023240 0.03456
NM_000168.6(GLI3):c.4007G>A (p.Gly1336Glu) rs35280470 0.03456
NM_000168.6(GLI3):c.*847C>A rs116986447 0.03453
NM_000168.6(GLI3):c.-42-11G>C rs80019165 0.03314
NM_000168.6(GLI3):c.-94C>G rs112754065 0.02747
NM_000168.6(GLI3):c.*249A>T rs6972450 0.02026
NM_000168.6(GLI3):c.2835G>C (p.Leu945=) rs61758978 0.01858
NM_000168.6(GLI3):c.*2019C>T rs73318085 0.01690
NM_000168.6(GLI3):c.*1042dup rs200076691 0.01529
NM_000168.5(GLI3):c.*3392G>T rs115519476 0.01463
NM_000168.6(GLI3):c.3774C>G (p.Leu1258=) rs35448119 0.01377
NM_000168.6(GLI3):c.*1297G>A rs116029585 0.01373
NM_000168.6(GLI3):c.3083G>T (p.Ser1028Ile) rs79049330 0.01304
NM_000168.6(GLI3):c.3084C>T (p.Ser1028=) rs79703713 0.01303
NM_000168.6(GLI3):c.*3262A>G rs73096902 0.00963
NM_000168.6(GLI3):c.1029-11C>T rs116195563 0.00867
NM_000168.6(GLI3):c.*2715G>A rs193192167 0.00534
NM_000168.6(GLI3):c.2802G>A (p.Ala934=) rs61730503 0.00520
NM_000168.6(GLI3):c.2165A>G (p.Asn722Ser) rs146130351 0.00514
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710 0.00511
NM_000168.6(GLI3):c.*2117A>G rs185099021 0.00491
NM_000168.6(GLI3):c.4510A>C (p.Ile1504Leu) rs145419251 0.00424
NM_000168.6(GLI3):c.*911A>G rs187664615 0.00395
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756 0.00320
NM_000168.6(GLI3):c.*1080G>A rs58924064 0.00285
NM_000168.6(GLI3):c.*603A>G rs182121145 0.00276
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys) rs146458902 0.00274
NM_000168.6(GLI3):c.1028+15G>A rs116842918 0.00250
NM_000168.6(GLI3):c.*835G>A rs73688609 0.00225
NM_000168.6(GLI3):c.3664C>T (p.Pro1222Ser) rs118149040 0.00207
NM_000168.6(GLI3):c.840C>G (p.Ser280=) rs77084911 0.00198
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373 0.00194
NM_000168.6(GLI3):c.280C>T (p.Leu94=) rs115137047 0.00193
NM_000168.6(GLI3):c.444C>T (p.Tyr148=) rs142241970 0.00191
NM_000168.6(GLI3):c.*1691C>T rs181261768 0.00174
NM_000168.6(GLI3):c.*2517G>A rs568690074 0.00153
NM_000168.6(GLI3):c.2635G>A (p.Ala879Thr) rs137939155 0.00150
NM_000168.6(GLI3):c.*2666G>A rs117987369 0.00142
NM_000168.6(GLI3):c.*1464A>G rs566417596 0.00119
NM_000168.6(GLI3):c.3208A>T (p.Thr1070Ser) rs150907867 0.00104
NM_000168.6(GLI3):c.*943G>A rs139782938 0.00092
NM_000168.6(GLI3):c.501G>A (p.Thr167=) rs149901929 0.00084
NM_000168.6(GLI3):c.*3309C>A rs553151369 0.00081
NM_000168.6(GLI3):c.4005G>A (p.Pro1335=) rs149860242 0.00076
NM_000168.6(GLI3):c.1647+13G>A rs149955824 0.00066
NM_000168.6(GLI3):c.*2620C>G rs56158069 0.00058
NM_000168.6(GLI3):c.*2357T>A rs562705224 0.00055
NM_000168.6(GLI3):c.1959G>A (p.Pro653=) rs148226583 0.00046
NM_000168.6(GLI3):c.2245A>G (p.Ile749Val) rs140048578 0.00039
NM_000168.6(GLI3):c.*1623A>G rs183853326 0.00038
NM_000168.6(GLI3):c.3984C>T (p.Leu1328=) rs148940743 0.00038
NM_000168.6(GLI3):c.3015C>T (p.Ala1005=) rs200965852 0.00032
NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg) rs199875457 0.00027
NM_000168.6(GLI3):c.3598C>G (p.His1200Asp) rs145069572 0.00025
NM_000168.6(GLI3):c.*386A>G rs951401550 0.00024
NM_000168.6(GLI3):c.*332T>C rs190531579 0.00023
NM_000168.6(GLI3):c.474-4C>T rs74536326 0.00023
NM_000168.6(GLI3):c.3117G>A (p.Ala1039=) rs75796620 0.00019
NM_000168.6(GLI3):c.3762T>C (p.Tyr1254=) rs148043302 0.00019
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) rs376725882 0.00016
NM_000168.6(GLI3):c.*2347C>A rs138209843 0.00015
NM_000168.6(GLI3):c.-105A>G rs945082850 0.00014
NM_000168.6(GLI3):c.*1332C>T rs761351887 0.00013
NM_000168.6(GLI3):c.*1411G>A rs148318176 0.00012
NM_000168.6(GLI3):c.*11A>G rs139896177 0.00011
NM_000168.6(GLI3):c.*185G>A rs531678760 0.00011
NM_000168.6(GLI3):c.*2465G>C rs886062314 0.00011
NM_000168.6(GLI3):c.*66G>T rs886062334 0.00011
NM_000168.6(GLI3):c.*974T>A rs886062328 0.00011
NM_000168.6(GLI3):c.411T>C (p.Ile137=) rs200203051 0.00011
NM_000168.6(GLI3):c.288C>T (p.His96=) rs200905584 0.00009
NM_000168.6(GLI3):c.4533C>T (p.Asp1511=) rs145513625 0.00009
NM_000168.6(GLI3):c.*2276T>C rs568393106 0.00007
NM_000168.6(GLI3):c.*2676C>T rs886062312 0.00007
NM_000168.6(GLI3):c.4524C>T (p.Ala1508=) rs201112421 0.00007
NM_000168.6(GLI3):c.*1263C>T rs886062324 0.00006
NM_000168.6(GLI3):c.*3369C>A rs886062310 0.00006
NM_000168.6(GLI3):c.1800G>A (p.Thr600=) rs138445547 0.00006
NM_000168.6(GLI3):c.3894G>A (p.Pro1298=) rs530418832 0.00006
NM_000168.6(GLI3):c.748C>T (p.Pro250Ser) rs202039538 0.00006
NM_000168.6(GLI3):c.480C>T (p.Ser160=) rs148660482 0.00005
NM_000168.6(GLI3):c.*1780C>T rs886062319 0.00004
NM_000168.6(GLI3):c.*2071C>T rs539931592 0.00004
NM_000168.6(GLI3):c.1221C>T (p.Ser407=) rs369180011 0.00004
NM_000168.6(GLI3):c.1540G>A (p.Val514Met) rs148502119 0.00004
NM_000168.6(GLI3):c.2740G>A (p.Gly914Ser) rs147004305 0.00004
NM_000168.6(GLI3):c.3119A>T (p.Glu1040Val) rs376477553 0.00004
NM_000168.6(GLI3):c.563C>A (p.Ser188Tyr) rs369926331 0.00004
NM_000168.6(GLI3):c.963C>T (p.Leu321=) rs34965132 0.00004
NM_000168.6(GLI3):c.*1386A>G rs886062322 0.00003
NM_000168.6(GLI3):c.*2257A>T rs886062316 0.00003
NM_000168.6(GLI3):c.1066T>C (p.Ser356Pro) rs371057761 0.00003
NM_000168.6(GLI3):c.1462G>A (p.Ala488Thr) rs756581886 0.00003
NM_000168.6(GLI3):c.1485G>A (p.Glu495=) rs149248727 0.00003
NM_000168.6(GLI3):c.2960A>G (p.Tyr987Cys) rs777313061 0.00003
NM_000168.6(GLI3):c.3149C>T (p.Thr1050Met) rs146556791 0.00003
NM_000168.6(GLI3):c.368-7T>G rs74376818 0.00003
NM_000168.6(GLI3):c.783C>T (p.Ala261=) rs748769754 0.00003
NM_000168.6(GLI3):c.*1007G>A rs886062327 0.00002
NM_000168.6(GLI3):c.*1470A>C rs1156419367 0.00002
NM_000168.6(GLI3):c.*165A>G rs886062333 0.00002
NM_000168.6(GLI3):c.1843A>T (p.Thr615Ser) rs200913720 0.00002
NM_000168.6(GLI3):c.3631G>A (p.Gly1211Arg) rs757059523 0.00002
NM_000168.6(GLI3):c.935C>T (p.Thr312Met) rs772929930 0.00002
NM_000168.6(GLI3):c.*1366C>T rs886062323 0.00001
NM_000168.6(GLI3):c.*1399T>C rs1160002644 0.00001
NM_000168.6(GLI3):c.*2089G>A rs865942966 0.00001
NM_000168.6(GLI3):c.*2176G>C rs1486012871 0.00001
NM_000168.6(GLI3):c.*2508G>C rs886062313 0.00001
NM_000168.6(GLI3):c.*28C>T rs761585918 0.00001
NM_000168.6(GLI3):c.*3002A>G rs1484040578 0.00001
NM_000168.6(GLI3):c.*311T>A rs1189349323 0.00001
NM_000168.6(GLI3):c.*889T>C rs1318388633 0.00001
NM_000168.6(GLI3):c.1057G>A (p.Ala353Thr) rs375277249 0.00001
NM_000168.6(GLI3):c.1845T>C (p.Thr615=) rs373687877 0.00001
NM_000168.6(GLI3):c.1958C>T (p.Pro653Leu) rs141220299 0.00001
NM_000168.6(GLI3):c.2004G>A (p.Pro668=) rs867192725 0.00001
NM_000168.6(GLI3):c.21C>T (p.Ser7=) rs770954230 0.00001
NM_000168.6(GLI3):c.2375G>A (p.Arg792Gln) rs546878700 0.00001
NM_000168.6(GLI3):c.2412C>G (p.Val804=) rs761829250 0.00001
NM_000168.6(GLI3):c.2493C>A (p.Ser831Arg) rs752838669 0.00001
NM_000168.6(GLI3):c.2729G>A (p.Ser910Asn) rs750790986 0.00001
NM_000168.6(GLI3):c.3278C>T (p.Pro1093Leu) rs777149082 0.00001
NM_000168.6(GLI3):c.367C>T (p.His123Tyr) rs199909375 0.00001
NM_000168.6(GLI3):c.3786A>G (p.Pro1262=) rs368450304 0.00001
NM_000168.6(GLI3):c.4008G>A (p.Gly1336=) rs755403372 0.00001
NM_000168.6(GLI3):c.4342G>A (p.Val1448Met) rs778526954 0.00001
NM_000168.6(GLI3):c.4356G>A (p.Gln1452=) rs377535957 0.00001
NM_000168.6(GLI3):c.4590C>T (p.Asn1530=) rs886062335 0.00001
NM_000168.6(GLI3):c.681G>A (p.Ala227=) rs752998397 0.00001
NM_000168.6(GLI3):c.825T>C (p.Asp275=) rs201269781 0.00001
NM_000168.6(GLI3):c.961C>T (p.Leu321Phe) rs769956877 0.00001
NM_000168.6(GLI3):c.99C>T (p.Ala33=) rs201109218 0.00001
NM_000168.6(GLI3):c.*1027C>T rs886062326
NM_000168.6(GLI3):c.*1239T>A rs886062325
NM_000168.6(GLI3):c.*1471C>T rs886062321
NM_000168.6(GLI3):c.*1553T>G rs1787043241
NM_000168.6(GLI3):c.*1688C>G rs886062320
NM_000168.6(GLI3):c.*1858C>T rs886062318
NM_000168.6(GLI3):c.*2050T>G rs573860484
NM_000168.6(GLI3):c.*2146_*2150del rs774204684
NM_000168.6(GLI3):c.*2216T>C rs886062317
NM_000168.6(GLI3):c.*2358del rs144064690
NM_000168.6(GLI3):c.*2419T>C rs886062315
NM_000168.6(GLI3):c.*248del rs5883809
NM_000168.6(GLI3):c.*248dup rs5883809
NM_000168.6(GLI3):c.*2612A>G rs1583724689
NM_000168.6(GLI3):c.*265dup rs550264781
NM_000168.6(GLI3):c.*266_*267insA rs1554304160
NM_000168.6(GLI3):c.*2744T>G rs1050141162
NM_000168.6(GLI3):c.*2861T>G rs1787010195
NM_000168.6(GLI3):c.*3004G>A rs3735361
NM_000168.6(GLI3):c.*3094T>C rs886062311
NM_000168.6(GLI3):c.*3238C>T rs372628047
NM_000168.6(GLI3):c.*333A>G rs1787080355
NM_000168.6(GLI3):c.*3341dup rs138425063
NM_000168.6(GLI3):c.*512C>T rs886062330
NM_000168.6(GLI3):c.*589T>C rs886062329
NM_000168.6(GLI3):c.*73C>T rs1787093147
NM_000168.6(GLI3):c.-3A>G rs886062340
NM_000168.6(GLI3):c.-47C>T rs886062341
NM_000168.6(GLI3):c.-68G>A rs113629469
NM_000168.6(GLI3):c.-78G>T rs886062342
NM_000168.6(GLI3):c.-83C>T rs886062343
NM_000168.6(GLI3):c.1029-22dup rs559579130
NM_000168.6(GLI3):c.1207G>A (p.Val403Ile) rs201070431
NM_000168.6(GLI3):c.1356+10C>A rs765591867
NM_000168.6(GLI3):c.1497C>T (p.His499=) rs539144173
NM_000168.6(GLI3):c.1509C>T (p.Asn503=) rs34020684
NM_000168.6(GLI3):c.1648-7T>A rs1787547025
NM_000168.6(GLI3):c.1957C>T (p.Pro653Ser) rs1787391168
NM_000168.6(GLI3):c.2083G>A (p.Val695Ile) rs199606102
NM_000168.6(GLI3):c.2826G>C (p.Pro942=) rs34245321
NM_000168.6(GLI3):c.3001G>A (p.Gly1001Ser) rs202182779
NM_000168.6(GLI3):c.3040G>C (p.Glu1014Gln) rs373643864
NM_000168.6(GLI3):c.3065C>T (p.Pro1022Leu) rs780814828
NM_000168.6(GLI3):c.3118G>A (p.Glu1040Lys) rs772839719
NM_000168.6(GLI3):c.353T>C (p.Met118Thr) rs886062339
NM_000168.6(GLI3):c.3622G>T (p.Gly1208Trp) rs369440387
NM_000168.6(GLI3):c.4016G>T (p.Arg1339Leu) rs756685313
NM_000168.6(GLI3):c.4020C>T (p.Pro1340=) rs35139358
NM_000168.6(GLI3):c.4296G>A (p.Leu1432=) rs768735366
NM_000168.6(GLI3):c.4627G>T (p.Ala1543Ser) rs1787101579
NM_000168.6(GLI3):c.641C>T (p.Ser214Phe) rs886062338
NM_000168.6(GLI3):c.776C>G (p.Ala259Gly) rs565817241
NM_000168.6(GLI3):c.827-19dup rs200073401
NM_000168.6(GLI3):c.827-6T>C rs886062337
NM_000168.6(GLI3):c.864G>A (p.Pro288=) rs139026838

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